Canonical Allele Identifier: CA2548347993
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521477G>T , CM000671.2:g.131521477G>T GRCh38
NC_000009.11:g.134396864G>T , CM000671.1:g.134396864G>T GRCh37
NC_000009.10:g.133386685G>T NCBI36
NG_008896.1:g.23576G>T
NG_008896.2:g.23576G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+5G>T ENSP00000343034.7:n.1663+5G>T
ENST00000404875.7:n.2365+5G>T
ENST00000423007.6:c.1882+5G>T ENSP00000404119.2:n.1882+5G>T
ENST00000677295.2:c.*2169+5G>T ENSP00000504346.2:n.*2169+5G>T
ENST00000678264.2:c.*2008+5G>T ENSP00000503157.2:n.*2008+5G>T
ENST00000682070.1:n.2290+5G>T
ENST00000682813.1:n.2229+5G>T
ENST00000683392.1:n.4572+5G>T
ENST00000683712.1:n.2230+5G>T
ENST00000683900.1:n.3725+5G>T
ENST00000684062.1:n.2491+5G>T
ENST00000684579.1:n.3671+5G>T
ENST00000684679.1:n.1052+5G>T
ENST00000341012.12:c.1663+5G>T ENSP00000343034.7:n.1663+5G>T
ENST00000372220.5:c.694+5G>T ENSP00000361294.5:n.694+5G>T
ENST00000372228.9:c.1891+5G>T ENSP00000361302.3:n.1891+5G>T
ENST00000402686.8:c.1825+5G>T MANE Select ENSP00000385797.4:n.1825+5G>T
ENST00000676640.1:c.1825+5G>T ENSP00000503281.1:n.1825+5G>T
ENST00000676803.1:c.886+5G>T ENSP00000503093.1:n.886+5G>T
ENST00000676835.1:c.*1040+5G>T ENSP00000502911.1:n.*1040+5G>T
ENST00000677029.1:c.1369+5G>T ENSP00000502936.1:n.1369+5G>T
ENST00000677099.1:c.*1535+5G>T ENSP00000504553.1:n.*1535+5G>T
ENST00000677216.1:c.1474+5G>T ENSP00000503772.1:n.1474+5G>T
ENST00000677221.1:n.850+5G>T
ENST00000677295.1:c.*1202+5G>T ENSP00000504346.1:n.*1202+5G>T
ENST00000677444.1:c.1770+5G>T
ENST00000677586.1:n.1192+5G>T
ENST00000677626.1:c.1474+5G>T ENSP00000503552.1:n.1474+5G>T
ENST00000677853.1:c.*833+5G>T ENSP00000503488.1:n.*833+5G>T
ENST00000678202.1:n.984+5G>T
ENST00000678264.1:c.*1202+5G>T ENSP00000503157.1:n.*1202+5G>T
ENST00000678303.1:c.1735+5G>T ENSP00000503696.1:n.1735+5G>T
ENST00000678366.1:c.*2074+5G>T ENSP00000504353.1:n.*2074+5G>T
ENST00000678546.1:c.*1770+5G>T ENSP00000503062.1:n.*1770+5G>T
ENST00000678548.1:c.*1897+5G>T ENSP00000503934.1:n.*1897+5G>T
ENST00000678626.1:n.1661+5G>T
ENST00000678739.1:c.*2146+5G>T ENSP00000503806.1:n.*2146+5G>T
ENST00000678833.1:c.*1577+5G>T ENSP00000503893.1:n.*1577+5G>T
ENST00000679023.1:c.1663+5G>T ENSP00000503718.1:n.1663+5G>T
ENST00000679076.1:c.1444+5G>T
ENST00000679111.1:c.*581+5G>T ENSP00000504257.1:n.*581+5G>T
ENST00000679189.1:c.1474+5G>T ENSP00000503356.1:n.1474+5G>T
ENST00000341012.11:c.1663+5G>T ENSP00000343034.7:n.1663+5G>T
ENST00000372220.4:c.688+5G>T ENSP00000361294.4:n.688+5G>T
ENST00000372228.7:c.1891+5G>T ENSP00000361302.3:n.1891+5G>T
ENST00000402686.7:c.1825+5G>T ENSP00000385797.3:n.1825+5G>T
ENST00000404875.6:c.1474+5G>T ENSP00000384531.2:n.1474+5G>T
ENST00000423007.5:c.1825+5G>T ENSP00000404119.1:n.1825+5G>T
ENST00000485278.5:n.2375+5G>T
ENST00000494883.1:n.368+5G>T
NM_001077365.1:c.1825+5G>T NP_001070833.1:n.1825+5G>T
NM_001077366.1:c.1663+5G>T NP_001070834.1:n.1663+5G>T
NM_001136113.1:c.1825+5G>T NP_001129585.1:n.1825+5G>T
NM_001136114.1:c.1474+5G>T NP_001129586.1:n.1474+5G>T
NM_007171.3:c.1891+5G>T NP_009102.3:n.1891+5G>T
XM_005272156.1:c.1891+5G>T XP_005272213.1:n.1891+5G>T
XM_005272158.1:c.1729+5G>T XP_005272215.1:n.1729+5G>T
XM_005272159.1:c.1540+5G>T XP_005272216.1:n.1540+5G>T
XM_005272162.1:c.694+5G>T XP_005272219.1:n.694+5G>T
XM_006716932.1:c.1540+5G>T XP_006716995.1:n.1540+5G>T
XM_011518140.1:c.1744+5G>T XP_011516442.1:n.1744+5G>T
XM_011518141.1:c.1678+5G>T XP_011516443.1:n.1678+5G>T
XM_011518142.1:c.1582+5G>T XP_011516444.1:n.1582+5G>T
XM_011518143.1:c.1576+5G>T XP_011516445.1:n.1576+5G>T
XM_011518145.1:c.1435+5G>T XP_011516447.1:n.1435+5G>T
XM_011518147.1:c.763+5G>T XP_011516449.1:n.763+5G>T
XR_929703.1:n.2067+5G>T
NM_001353193.1:c.1891+5G>T NP_001340122.1:n.1891+5G>T
NM_001353194.1:c.1663+5G>T NP_001340123.1:n.1663+5G>T
NM_001353195.1:c.1474+5G>T NP_001340124.1:n.1474+5G>T
NM_001353196.1:c.1735+5G>T NP_001340125.1:n.1735+5G>T
NM_001353197.1:c.1729+5G>T NP_001340126.1:n.1729+5G>T
NM_001353198.1:c.1729+5G>T NP_001340127.1:n.1729+5G>T
NM_001353199.1:c.1540+5G>T NP_001340128.1:n.1540+5G>T
NM_001353200.1:c.1369+5G>T NP_001340129.1:n.1369+5G>T
NR_148391.1:n.1875+5G>T
NR_148392.1:n.2093+5G>T
NR_148393.1:n.2014+5G>T
NR_148394.1:n.1768+5G>T
NR_148395.1:n.2166+5G>T
NR_148396.1:n.1800+5G>T
NR_148397.1:n.1925+5G>T
NR_148398.1:n.1880+5G>T
NR_148399.1:n.2406+5G>T
NR_148400.1:n.2005+5G>T
XM_005272162.3:c.694+5G>T XP_005272219.1:n.694+5G>T
XM_006716932.2:c.1540+5G>T XP_006716995.1:n.1540+5G>T
XM_011518140.2:c.1744+5G>T XP_011516442.1:n.1744+5G>T
XM_011518141.2:c.1678+5G>T XP_011516443.1:n.1678+5G>T
XM_011518142.2:c.1582+5G>T XP_011516444.1:n.1582+5G>T
XM_011518143.2:c.1576+5G>T XP_011516445.1:n.1576+5G>T
XM_011518145.2:c.1435+5G>T XP_011516447.1:n.1435+5G>T
XM_017014205.2:c.694+5G>T XP_016869694.1:n.694+5G>T
XM_024447380.1:c.694+5G>T XP_024303148.1:n.694+5G>T
XM_024447381.1:c.1000+5G>T XP_024303149.1:n.1000+5G>T
XM_024447382.1:c.694+5G>T XP_024303150.1:n.694+5G>T
XR_001746160.2:n.1995+5G>T
XR_001746162.2:n.2200+5G>T
XR_001746164.1:n.1917+5G>T
XR_001746166.2:n.2212+5G>T
NM_001077365.2:c.1825+5G>T MANE Select NP_001070833.1:n.1825+5G>T
NM_001077366.2:c.1663+5G>T NP_001070834.1:n.1663+5G>T
NM_001136113.2:c.1825+5G>T NP_001129585.1:n.1825+5G>T
NM_001136114.2:c.1474+5G>T NP_001129586.1:n.1474+5G>T
NM_001353193.2:c.1891+5G>T NP_001340122.2:n.1891+5G>T
NM_001353194.2:c.1663+5G>T NP_001340123.1:n.1663+5G>T
NM_001353195.2:c.1474+5G>T NP_001340124.1:n.1474+5G>T
NM_001353196.2:c.1735+5G>T NP_001340125.1:n.1735+5G>T
NM_001353197.2:c.1729+5G>T NP_001340126.2:n.1729+5G>T
NM_001353198.2:c.1729+5G>T NP_001340127.2:n.1729+5G>T
NM_001353199.2:c.1540+5G>T NP_001340128.2:n.1540+5G>T
NM_001353200.2:c.1369+5G>T NP_001340129.1:n.1369+5G>T
NM_001374689.1:c.1813+5G>T NP_001361618.1:n.1813+5G>T
NM_001374690.1:c.1606+5G>T NP_001361619.1:n.1606+5G>T
NM_001374691.1:c.1474+5G>T NP_001361620.1:n.1474+5G>T
NM_001374692.1:c.1474+5G>T NP_001361621.1:n.1474+5G>T
NM_001374693.1:c.1474+5G>T NP_001361622.1:n.1474+5G>T
NM_001374695.1:c.1435+5G>T NP_001361624.1:n.1435+5G>T
NM_007171.4:c.1891+5G>T NP_009102.4:n.1891+5G>T
NR_148391.2:n.1859+5G>T
NR_148392.2:n.2077+5G>T
NR_148393.2:n.1998+5G>T
NR_148394.2:n.1752+5G>T
NR_148395.2:n.2150+5G>T
NR_148396.2:n.1784+5G>T
NR_148397.2:n.1909+5G>T
NR_148398.2:n.1864+5G>T
NR_148399.2:n.2390+5G>T
NR_148400.2:n.1989+5G>T